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A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations
Journal article   Peer reviewed

A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations

Bashaer Al-Bulushi, Amal Al-Hashem and Brahim Tabarki
Journal of child neurology, Vol.29(2), pp.265-268
01/02/2014
PMID: 24097848

Abstract

Clinical Neurology Life Sciences & Biomedicine Neurosciences & Neurology Pediatrics Science & Technology
The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.

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